Canonical Allele Identifier: CA355962981

Gene: IDUA

Linked Data

• MyVariant Identifiers: chr4:g.996076A>T (hg19) ; chr4:g.1002288A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002288A>T , CM000666.2:g.1002288A>T	GRCh38
NC_000004.11:g.996076A>T , CM000666.1:g.996076A>T	GRCh37
NC_000004.10:g.986076A>T	NCBI36
NG_008103.1:g.20292A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000247933.9:c.992A>T	ENSP00000247933.4:p.Asn331Ile
ENST00000514224.2:c.992A>T MANE Select	ENSP00000425081.2:p.Asn331Ile
ENST00000652070.1:n.1048A>T
ENST00000247933.8:c.992A>T	ENSP00000247933.4:p.Asn331Ile
ENST00000514224.1:c.596A>T	ENSP00000425081.1:p.Asn199Ile
ENST00000514698.5:n.1099A>T
NM_000203.4:c.992A>T	NP_000194.2:p.Asn331Ile
NR_110313.1:n.1080A>T
XM_006713882.2:c.596A>T	XP_006713945.1:p.Asn199Ile
XM_011513459.1:c.1058A>T	XP_011511761.1:p.Asn353Ile
XM_011513460.1:c.851A>T	XP_011511762.1:p.Asn284Ile
XM_011513461.1:c.785A>T	XP_011511763.1:p.Asn262Ile
XM_011513462.1:c.704A>T	XP_011511764.1:p.Asn235Ile
XM_011513463.1:c.704A>T	XP_011511765.1:p.Asn235Ile
XR_924947.1:n.1061A>T
NM_000203.5:c.992A>T MANE Select	NP_000194.2:p.Asn331Ile
NM_001363576.1:c.596A>T	NP_001350505.1:p.Asn199Ile
XM_011513461.2:c.785A>T	XP_011511763.1:p.Asn262Ile
XM_017008163.1:c.32A>T	XP_016863652.1:p.Asn11Ile